Canonical Allele Identifier: CA259341
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033659

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647226_34647227insG , CM000671.2:g.34647226_34647227insG GRCh38
NC_000009.11:g.34647223_34647224insG , CM000671.1:g.34647223_34647224insG GRCh37
NC_000009.10:g.34637223_34637224insG NCBI36
NG_009029.1:g.5589_5590insG
NG_028966.1:g.42_43insG
NG_009029.2:g.5638_5639insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.220_221insG ENSP00000509954.1:p.Leu74ArgfsTer18
ENST00000378842.8:c.220_221insG MANE Select ENSP00000368119.4:p.Leu74ArgfsTer18
ENST00000378842.7:c.220_221insG ENSP00000368119.3:p.Leu74ArgfsTer18
ENST00000450095.6:c.18_19insG ENSP00000401956.2:p.Cys7ValfsTer12
ENST00000465543.6:n.559_560insG
ENST00000468099.2:n.260_261insG
ENST00000472111.5:n.261_262insG
ENST00000473506.6:c.220_221insG ENSP00000432839.2:p.Leu74ArgfsTer?
ENST00000473529.5:n.267_268insG
ENST00000485531.1:n.213_214insG
ENST00000487381.5:n.246_247insG
ENST00000489643.6:n.250_251insG
ENST00000554085.5:c.220_221insG ENSP00000450419.1:p.Leu74ArgfsTer17
ENST00000554139.5:n.273_274insG
ENST00000554330.5:n.217_218insG
ENST00000554550.5:c.220_221insG ENSP00000451435.1:p.Leu74ArgfsTer23
ENST00000554638.5:n.244_245insG
ENST00000554897.5:c.220_221insG ENSP00000450942.1:p.Leu74ArgfsTer23
ENST00000554944.5:n.250_251insG
ENST00000555020.5:n.250_251insG
ENST00000555086.5:n.224_225insG
ENST00000555214.5:n.229_230insG
ENST00000556157.1:n.327_328insG
ENST00000556244.1:c.104_105insG
ENST00000556278.1:c.220_221insG ENSP00000451792.1:p.Leu74ArgfsTer14
ENST00000556403.5:n.233_234insG
ENST00000556494.5:n.252_253insG
ENST00000557541.5:n.413_414insG
ENST00000557706.5:n.334_335insG
NM_000155.3:c.220_221insG NP_000146.2:p.Leu74ArgfsTer18
NM_001258332.1:c.18_19insG NP_001245261.1:p.Cys7ValfsTer12
NM_000155.4:c.220_221insG MANE Select NP_000146.2:p.Leu74ArgfsTer18
NM_001258332.2:c.18_19insG NP_001245261.1:p.Cys7ValfsTer12